SOX12 Gene Summary [Human]
Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq, Jan 2013]
Details
| Type | Protein Coding |
| Official Symbol | SOX12 |
| Official Name | SRY-box transcription factor 12 [Source:HGNC Symbol;Acc:HGNC:11198] |
| Ensembl ID | ENSG00000177732 |
| Bio databases IDs | |
| Aliases | SRY-box transcription factor 12 |
| Synonyms | 2010205A02RIK, SOX22, SRY-box transcription factor 12, SRY (sex determining region Y)-box 12 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SOX12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- double-stranded DNA binding
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- sequence-specific DNA binding
- DNA binding
Pathways
Biological processes and signaling networks where the SOX12 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- preeclampsia
- persistent truncus arteriosus
- double outlet right ventricle
- rotator cuff injury
- ventricular septal defect
- febrile seizure
- flu
role in cell
- expression in
- proliferation
- apoptosis
- migration
- colony formation
- differentiation
- invasion by
- frequency
- sphere formation
- chondrogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOX12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of regulatory T cell differentiation
- negative regulation of transcription from RNA polymerase II promoter
- neuron differentiation
- brain development
- positive regulation of transcription from RNA polymerase II promoter
- spinal cord development
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity